A rare chronic disease has a relatively low incidence rate among the general population, yet it afflicts a patient having it for the patient's lifetime. Examples of rare chronic diseases include Multiple Sclerosis, Myasthenia Gravis, CIDP, Myositis, Parkinson's Disease, Hemophilia, Sickle Cell Anemia, Cystic Fibrosis, Lupus, among others. The treatment of rare chronic diseases can be very costly. For example, average medical claims for patients having Hemophilia and Myasthenia Gravis often presently exceed $40,000 per year. For patients experiencing severe complications related to these diseases, annual costs may presently exceed $100,000-$300,000.
Typically, patients with rare chronic diseases receive fragmented and costly health care. Often, they see doctors not trained to handle their specific diseases and/or they delay care until their health is deteriorated to the point of needing expensive hospitalization. As a result, patient records are widely dispersed and providers rarely have a complete understanding of a patient's condition.
Health care costs for patients with rare chronic diseases may be reduced by carefully assessing a patient's condition and by developing a comprehensive individualized care plan. Early identification of patients having a rare chronic disease is important to the implementation of an individualized, cost effective care plan. Unfortunately, early identification of persons having rare chronic diseases from a large population of patients is often difficult.
Early detection of rare chronic diseases is often hampered because of the lack of experience health care providers have with respect to a particular disease. For example, an estimated 25,000 Americans are stricken annually with Myasthenia Gravis. Unfortunately, most health care providers seldom see patients with Myasthenia Gravis. On average, a neurologist may see only one or two such cases per year. Consequently, many patients having rare chronic diseases go undiagnosed, often for extended periods of time. Furthermore, this lack of experience with rare chronic disease often hinders effective and efficient treatment once a disease is diagnosed.
Also hampering early detection of rare chronic diseases are problems associated with medical and insurance records. For example, a patient having a rare chronic disease may be diagnosed properly, but due to a data entry error, the medical records do not accurately reflect the diagnosis. It is estimated that data entry errors exist in about ten percent of all claims histories.